ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.1735_1737dup (p.Phe579dup)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045057 SCV001208886 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B 2019-12-27 criteria provided, single submitter clinical testing This variant, c.1735_1737dup, results in the insertion of 1 amino acid(s) to the DNM2 protein (p.Phe579dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DNM2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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